| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSP | 15 | Q673X | c.2017C>T | p.Gln673X |
0/0
| SCD at age 9; cardiomyopathy, plantar keratoderma, alopecia and bullous dermatosis | | Compound heterozygosity: DSP Q673X and DSP Q1446X. Some non-affected family members carry one of these variants. |
Mutation details
|
| DSP | 23 | Q1446X | c.4336C>T | p.Gln1446X |
0/0
| SCD at age 9; cardiomyopathy, plantar keratoderma, alopecia and bullous dermatosis | | Compound heterozygosity: DSP Q673X and DSP Q1446X. Some non-affected family members carry one of these variants. |
Mutation details
|